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Glomerulopathy with fibronectin deposits 2(GFND2)

MedGen UID:
356149
Concept ID:
C1866075
Disease or Syndrome
Synonyms: Fibronectin glomerulopathy; GFND2; Glomerular nephritis familial with fibronectin deposits
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: FN1
Cytogenetic location: 2q35
OMIM: 601894

Definition

Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (Castelletti et al., 2008). For a discussion of genetic heterogeneity of GFND, see 137950. [from OMIM]

Clinical features

Renal cell carcinoma
MedGen UID:
505836
Concept ID:
CN004944
Finding
A type of `carcinoma` (MPATH:549) of the `kidney` (FMA:7203) with origin in the epithelium of the `proximal convoluted renal tubule` (FMA:17693).
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Nephrotic syndrome
MedGen UID:
504341
Concept ID:
CN000100
Finding
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Microscopic hematuria
MedGen UID:
505401
Concept ID:
CN002629
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
Stage 5 chronic kidney disease
MedGen UID:
505594
Concept ID:
CN003407
Finding
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Renal cell carcinoma
MedGen UID:
505836
Concept ID:
CN004944
Finding
A type of `carcinoma` (MPATH:549) of the `kidney` (FMA:7203) with origin in the epithelium of the `proximal convoluted renal tubule` (FMA:17693).
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Microscopic hematuria
MedGen UID:
505401
Concept ID:
CN002629
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.

Recent clinical studies

Diagnosis

Joosten H, Strunk AL, Meijer S, Boers JE, Ariës MJ, Abbes AP, Engel H, Beukhof JR
Clin Nephrol 2010 Jun;73(6):454-72. PMID: 20497759

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